Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr3:42723586-42723832	K562	blood:	n/a	n/a
2	EGR1	chr3:42723551-42723834	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42694748..42699561-chr3:42722251..42726025,6	K562	blood:
2	chr3:42709094..42711922-chr3:42723426..42725135,3	K562	blood:
3	chr3:42717924..42720183-chr3:42723570..42725639,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13064597	0.90[EUR][1000 genomes]
rs13085143	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13086680	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13100261	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2290976	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs339705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34077739	0.89[EUR][1000 genomes]
rs34196076	0.88[EUR][1000 genomes]
rs34243788	0.91[EUR][1000 genomes]
rs34721465	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35384559	0.91[EUR][1000 genomes]
rs3733059	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3733061	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55959327	0.83[EUR][1000 genomes]
rs58645732	0.91[EUR][1000 genomes]
rs66933062	0.97[EUR][1000 genomes]
rs67174294	0.90[EUR][1000 genomes]
rs6778982	1.00[CEU][hapmap]
rs6790204	1.00[CEU][hapmap]
rs6797491	1.00[CEU][hapmap]
rs6797545	1.00[CEU][hapmap]
rs7614219	1.00[CEU][hapmap]
rs7616701	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs339708	SEC22C	cis	Muscle Skeletal	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42718000-42724800	Weak transcription	Right Atrium	heart
2	chr3:42720200-42725000	Weak transcription	Right Ventricle	heart
3	chr3:42722400-42725000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:42722400-42725000	Weak transcription	NH-A	brain
5	chr3:42722400-42725800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:42722600-42724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:42722600-42724200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:42722600-42724200	Weak transcription	HSMMtube	muscle
9	chr3:42722600-42724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:42722600-42724800	Weak transcription	HSMM	muscle
11	chr3:42722600-42725000	Weak transcription	NHLF	lung
12	chr3:42722800-42724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:42722800-42724200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:42722800-42724800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:42722800-42724800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:42722800-42724800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:42722800-42724800	Weak transcription	NHDF-Ad	bronchial
18	chr3:42723600-42724200	Weak transcription	Left Ventricle	heart

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